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Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH. van de Wal MAE, et al. Brain. 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. Brain. 2022. PMID: 34849584 Free PMC article. Review.
Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing-related pathologies and rare mitochondrial diseases. With respect to the latter, mutations in subunit-encoding genes and assembly factors of th …
Dysfunction of these organelles is linked to a heterogeneous group of multisystemic disorders, including diabetes, cancer, ageing-related pa …
Gene of the month: SDH.
Aldera AP, Govender D. Aldera AP, et al. J Clin Pathol. 2018 Feb;71(2):95-97. doi: 10.1136/jclinpath-2017-204677. Epub 2017 Oct 25. J Clin Pathol. 2018. PMID: 29070651 Review.
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the citric acid cycle and the electron transfer chain. Germline mutations in SDHA are associated with Leigh syndrome. Mutations in S …
Succinate dehydrogenase (SDH) is a heterotetrameric nuclear encoded mitochondrial protein complex which plays a role in the ci …
Leigh syndrome: neuropathology and pathogenesis.
Lake NJ, Bird MJ, Isohanni P, Paetau A. Lake NJ, et al. J Neuropathol Exp Neurol. 2015 Jun;74(6):482-92. doi: 10.1097/NEN.0000000000000195. J Neuropathol Exp Neurol. 2015. PMID: 25978847 Review.
Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. ...
Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial disease. ...
Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S. Fassone E, et al. J Med Genet. 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. J Med Genet. 2012. PMID: 22972949 Review.
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised by marked clinical and genetic hetero …
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of c …
Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.
Blanchet L, Buydens MC, Smeitink JA, Willems PH, Koopman WJ. Blanchet L, et al. Curr Pharm Des. 2011 Dec 1;17(36):4023-33. doi: 10.2174/138161211798764870. Curr Pharm Des. 2011. PMID: 22188452 Review.
Isolated deficiency of mitochondrial complex I (CI), the first complex of the oxidative phosphorylation (OXPHOS) system, can arise from mutations in nuclear DNA (nDNA)-encoded subunits. ...Our results highlight a connection between CI deficiency …
Isolated deficiency of mitochondrial complex I (CI), the first complex of the oxidative phosphorylation (OXPHOS) …
Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.
Roestenberg P, Manjeri GR, Valsecchi F, Smeitink JA, Willems PH, Koopman WJ. Roestenberg P, et al. Mitochondrion. 2012 Jan;12(1):57-65. doi: 10.1016/j.mito.2011.06.011. Epub 2011 Jul 2. Mitochondrion. 2012. PMID: 21757032 Review.
Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). It consists of 45 different subunits, encoded by the mitochondrial (mtDNA) and nuclear DNA (nDNA). In humans, mutations in nDNA-encoded subunits ca …
Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). It consists of …
Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.
Tragni V, Primiano G, Tummolo A, Cafferati Beltrame L, La Piana G, Sgobba MN, Cavalluzzi MM, Paterno G, Gorgoglione R, Volpicella M, Guerra L, Marzulli D, Servidei S, De Grassi A, Petrosillo G, Lentini G, Pierri CL. Tragni V, et al. Molecules. 2022 May 29;27(11):3494. doi: 10.3390/molecules27113494. Molecules. 2022. PMID: 35684429 Free PMC article. Review.
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondrial proteins, or non-protein-coding mitochondrial RNA. ...
Mitochondrial diseases (MDs) may result from mutations affecting nuclear or mitochondrial genes, encoding mitochondrial …
Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP. Loeffen JL, et al. Hum Mutat. 2000;15(2):123-34. doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10649489 Review.
Isolated complex I deficiency is one of the most frequently observed disturbance of the OXPHOS system. ...Finally, considering information currently available, isolated complex I deficiency in children seems to be caused in the majority by mutations in …
Isolated complex I deficiency is one of the most frequently observed disturbance of the OXPHOS system. ...Finally, considering …
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ, McKenzie M. Burgin HJ, et al. FEBS Lett. 2020 Feb;594(4):590-610. doi: 10.1002/1873-3468.13735. Epub 2020 Jan 29. FEBS Lett. 2020. PMID: 31944285 Free article. Review.
However, patients with deficiencies in the FAO enzyme short-chain enoyl-CoA hydratase 1 (ECHS1) are typically diagnosed with Leigh syndrome, a lethal form of subacute necrotizing encephalomyelopathy that is normally associated with OXPHOS dysfunction. ...However, ne …
However, patients with deficiencies in the FAO enzyme short-chain enoyl-CoA hydratase 1 (ECHS1) are typically diagnosed with Leigh …
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, McFarland R, Taylor RW. Nesbitt V, et al. Dev Med Child Neurol. 2012 Jun;54(6):500-6. doi: 10.1111/j.1469-8749.2012.04224.x. Epub 2012 Feb 27. Dev Med Child Neurol. 2012. PMID: 22364517 Free article. Review.
The marked clinical, biochemical, and genetic heterogeneity means that accurate genetic counselling relies heavily upon the identification of the underlying causative mutation in the individual and determination of carrier status in the parents. Isolated complex I defic …
The marked clinical, biochemical, and genetic heterogeneity means that accurate genetic counselling relies heavily upon the identification o …
39 results